L1213V (p.Leu1213Val) variant of NPC1 (O15118)
L1213V (p.Leu1213Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1; Niemann-Pick disease, type C; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L1213V (p.Leu1213Val) variant details
- p.Leu1213Val
- rs766178353
- ClinGen CA8912686
- ClinVar RCV002505928
- ClinVar RCV002574717
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.86
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C; not)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. (PMID 10521290)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)